Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance.
- NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_assertion description "[Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism-hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance.
- NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_assertion evidence source_evidence_literature NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance.
- NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_assertion SIO_000772 19690084 NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance.
- NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_assertion wasDerivedFrom befree-20150227 NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance.
- NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_assertion wasGeneratedBy ECO_0000203 NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP433891.RAQt4-oJA3Zm6GrF4hARXzS-n5WmK-7agnsk4FTNi5fTQ130_provenance.